4195 papers
The authors present KGGSV, a scalable and secure end-to-end framework that successfully harmonized 3.68 million structural variants across nearly half a million UK Biobank genomes to enable a large-scale phenome-wide association study, revealing thousands of significant SV-trait associations and unique structural risk loci independent of single-nucleotide variants.
This study demonstrates that elevated m6A RNA methylation exerts neuroprotective effects in Parkinson's disease by recruiting YTHDF2 to degrade α-synuclein mRNA, thereby reducing α-synuclein levels, mitigating neuronal apoptosis and mitochondrial dysfunction, and improving motor and cognitive impairments in animal models.
This study demonstrates that early-life *Staphylococcus epidermidis* infection disrupts hippocampal development in neonatal mice by altering neuronal primary cilia density and remodeling associated signaling networks, thereby providing a mechanistic link between neonatal infection and impaired brain maturation.
This study identifies tRF-3001a as a novel oncogenic mediator in breast cancer that promotes tumorigenic phenotypes and intercellular communication by being selectively enriched in extracellular vesicles, where it drives recipient cell proliferation, migration, and survival through the transfer of oncogenic signals.
This study demonstrates that pathological alpha-synuclein selectively disrupts retinal rod ribbon synapses by impairing synaptic vesicle dynamics and mitochondrial integrity, leading to visual deficits in Parkinson's disease models, which can be effectively reversed by 40 Hz green-light flicker therapy that clears alpha-synuclein aggregates and restores synaptic function.
This study demonstrates that incorporating a protein-protein interaction network-based Laplacian smoothness term into a graph-regularised denoising autoencoder significantly enhances the stability, geometric coherence, and clinical relevance of unsupervised multi-omics breast cancer patient embeddings compared to standard unstructured models.
This study utilized in silico analyses to identify the L105R missense SNP as the most deleterious mutation in the bovine IGF-1 gene, demonstrating its disruptive impact on protein stability, structure, and receptor binding, thereby proposing it as a valuable molecular marker for dairy breeding programs.
This study demonstrates that multivariate soil physicochemical conditions covary with a fungal-dominated microbial community state in northern China and evaluates the Evidence-Constrained Residual Fusion (ECRF) method, which achieves high balanced accuracy in identifying community extremes using combined soil and spatial predictors, though its incremental performance over a transparent anchor model is modest and dependent on data partitioning.
This study describes two new *Trichoderma* species, *T. yunguichuanense* and *T. paramoravicum*, isolated from Chinese agricultural soils, using multilocus phylogenetic and morphological analyses to confirm their distinctiveness while also clarifying the conspecific relationship among *T. longibrachiatum*, *T. awajun*, and *T. bissettii*.
This study introduces EpiNet, a multilayer integrative atlas of the human epigenetic regulatory network that reveals the system's hierarchical, modular organization and non-random assembly principles—highlighting WDR5 as a central hub, recurrent Pfam domain signatures, and lncRNA scaffolding—through comprehensive network analysis of curated protein, complex, domain, and lncRNA data.